| H00285 | |
| H number | H00285 |
| Name | Blau syndrome |
| Description | Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy are additional features of the disease. Missense mutations in the NOD region of NOD2 underlie Blau syndrome, augmenting NOD2 activity even in the absence of pathogenic stimuli. Inflammation seen in patients with Blau syndrome might be due to an aberrant activation of NOD2 and constitutive NF-kappaB activation. Blau syndrome usually occurs in children younger than age 4 years. |
| Category | Immune system disease |
| Network | nt06521(H00285) NLR signaling |
| Gene | NOD2 [HSA:64127] [KO:K10165] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A60.Y MeSH: C538157 OMIM: 186580 |
| Reference | PMID:4056967 AUTHORS Blau EB TITLE Familial granulomatous arthritis, iritis, and rash. JOURNAL J Pediatr 107:689-93 (1985) DOI:10.1016/S0022-3476(85)80394-2 PMID:11528384 AUTHORS Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP TITLE CARD15 mutations in Blau syndrome. JOURNAL Nat Genet 29:19-20 (2001) DOI:10.1038/ng720 PMID:18718560 AUTHORS Punzi L, Furlan A, Podswiadek M, Gava A, Valente M, De Marchi M, Peserico A TITLE Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. JOURNAL Autoimmun Rev 8:228-32 (2009) DOI:10.1016/j.autrev.2008.07.034 |